The assessment of health-related quality of life (HRQoL) in thalassemia offers a holistic approach to the disease and facilitates better communication between physicians and patients. This study aimed to evaluate the HRQoL of transfusion-dependent thalassemia (TDT) patients in Greece. This was a multicentric, cross-sectional study conducted in 2017 involving 283 adult TDT patients. All participants completed a set of two QoL questionnaires, the generic SF-36v2 and the disease-specific TranQol. Demographic and clinical characteristics were used to predefine patient subgroups. Significant factors identified in the univariate analysis were entered into a multivariate analysis to assess their effect on HRQoL. The SF-36 scores of TDT patients were consistently lower compared to the general population in Greece. The mean summary score of TranQol was relatively high (71 ± 14%), exceeding levels observed in national surveys in other countries. Employment emerged as the most significant independent factor associated with better HRQoL, whereas age had the most significant negative effect. This study represents the first comprehensive QoL assessment of a representative sample of the TDT population in Greece. The implementation of TranQol allowed for the quantification of HRQoL in Greece, establishing a baseline for future follow-up, and identifying more vulnerable patient subgroups.

The assessment of Health-Related Quality of Life (HRQoL) in Thalassemia offers a holistic approach to the disease and facilitates better communication between physicians and patients. This study aimed to evaluate the HRQoL of Transfusion-Dependent Thalassemia (TDT) patients in Greece. This was a multicentre, cross-sectional study conducted in 2017, involving 283 adult TDT patients. All participants completed a set of two QoL questionnaires, the generic SF-36v2 and the disease-specific TranQol. Demographic and clinical characteristics were used to predefine patient subgroups. Significant factors identified in univariate analysis were entered into a multivariate analysis to assess their effect on HRQoL. The SF-36 scores of TDT patients were consistently lower, compared to the general population in Greece. The mean summary score of TranQol was relatively high (71±14%), exceeding levels observed in national surveys in other countries. Employment emerged as the most significant independent factor associated with better HRQoL, whereas age had the most significant negative effect. This study represents the first comprehensive QoL assessment in a representative sample of the TDT population in Greece. The implementation of TranQol allowed for the quantification of HRQoL in Greece, establishing a baseline for future follow-up, and identifying more vulnerable patient subgroups.

Congenital dyserythropoietic anaemia type-I (CDA-I) is a rare autosomal recessive disease characterised by ineffective erythropoiesis, haemolysis and non-haematological developmental abnormalities. Its treatment is multifactorial, including the management of anaemia, iron overload and prevention of osteoporosis. The only treatment specific to CDA-I is subcutaneous interferon alpha (IFNα) 2A. This study presents the first summary of all published cases of CDA-I patients (n = 33) treated with IFNα and categorises their outcome. We also present new unpublished cases (n = 7). Overall, we find that IFNα administration causes a statistically significant mean increase in haemoglobin of 30.7 g/L (p < 0.001). However, we note that previous studies do not assess the impact of IFNα therapy on providing symptomatic benefit to patients with CDA-I, or the weight of side effects on their quality of life. We collaborate directly with patients through the organisation Congenital Anaemia Network to establish patient preferences regarding IFNα treatment. We propose a classification framework for the use of IFNα in CDA-I that includes patient-reported outcome measures in addition to grading response according to changes in Hb levels. We believe that the use of this framework will aid standardisation in measuring response to therapy, improve clinical practice and assist in future research.

Purpose: Fatigue is a multidimensional patient-reported symptom and an important determinant of health-related quality of life (HRQoL) in adults with anaemia. This review aimed to map the use of selected, validated instruments for measuring fatigue in adults with anaemia, describe their frequency of use, and summarise reported associations with clinical, biological and other patient-reported outcomes. Methods: A scoping review was conducted in accordance with PRISMA-ScR and Joanna Briggs Institute guidance. MEDLINE, PubMed, Embase, CENTRAL, the Cochrane Database of Systematic Reviews and Cumulative Index to Nursing and Allied Health Literature (CINAHL) were searched for English-language studies published from January 2000 to June 2025. Eligible studies included adults described by study authors as having anaemia and used at least one pre-specified validated fatigue instrument. Study selection and data charting were undertaken independently by two reviewers, and findings were synthesised descriptively. Results: Of 5,481 records identified, 373 studies were included. The SF-36 vitality subscale ( n = 207, 55.5%) and FACIT-Fatigue ( n = 95, 25.5%) were the most frequently used instruments; 27 studies used more than one pre-specified instrument. Overall, 270 studies (72.4%) reported a statistically significant association between fatigue and at least one clinical, biological or treatment-related variable. Haemoglobin concentration or anaemia status was the most frequently reported correlate ( n = 110 of 270, 40.7%). Instrument choice, study populations and reporting practices were highly heterogeneous. Conclusions: Fatigue measurement in adults with anaemia is inconsistent and commonly relies on a generic HRQoL subscale rather than a fatigue-specific instrument. The frequency with which an instrument is used should not be interpreted as evidence that it is optimal. Consensus on a core outcome set for fatigue in anaemia [1], clearer reporting of anaemia and fatigue, and evaluation of instrument validity, responsiveness and interpretability across anaemia populations are needed.